Variant report

Variant	nsv563164
Chromosome Location	chr13:111595399-111625091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111593882..111596003-chr13:111601487..111604119,2	MCF-7	breast:
2	chr13:111596388..111597279-chr13:111699232..111699797,2	K562	blood:
3	chr13:111596301..111597417-chr13:111701936..111703237,11	MCF-7	breast:
4	chr13:111601035..111603243-chr13:111609725..111611968,2	K562	blood:
5	chr13:111615932..111619555-chr13:111625653..111628328,3	K562	blood:
6	chr13:111589374..111593348-chr13:111595009..111596753,3	K562	blood:
7	chr13:111596221..111596849-chr13:111868318..111869035,2	MCF-7	breast:
8	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:
9	chr13:111616685..111618480-chr13:111634399..111636568,2	K562	blood:
10	chr13:111363897..111368034-chr13:111615655..111620129,4	K562	blood:
11	chr13:111596307..111597526-chr13:111702246..111703284,7	K562	blood:
12	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:
13	chr13:111595026..111596884-chr13:111600669..111603295,2	K562	blood:
14	chr13:111522180..111524317-chr13:111617817..111619868,2	K562	blood:
15	chr13:111623288..111624991-chr13:111703272..111705702,2	K562	blood:
16	chr13:111622129..111626964-chr13:111627433..111631976,8	K562	blood:
17	chr10:85883373..85884342-chr13:111619087..111619728,2	MCF-7	breast:
18	chr13:111595026..111596884-chr13:111600669..111603295,2	K562	blood:
19	chr13:111520805..111523582-chr13:111615947..111617685,2	K562	blood:
20	chr13:111600843..111602804-chr13:111656285..111658237,2	K562	blood:
21	chr13:111625086..111627236-chr13:111632715..111635613,2	K562	blood:
22	chr13:111565745..111568365-chr13:111597876..111600865,2	K562	blood:
23	chr13:111617540..111619381-chr13:111622818..111625539,2	K562	blood:
24	chr13:111623364..111627680-chr13:111627764..111631976,4	K562	blood:
25	chr13:111610789..111612726-chr13:111615344..111617491,2	K562	blood:
26	chr13:111589463..111592120-chr13:111592601..111596549,3	K562	blood:
27	chr13:111596412..111597239-chr13:111702359..111703278,4	MCF-7	breast:
28	chr13:111596690..111597257-chr13:111659947..111660486,2	MCF-7	breast:
29	chr13:111593882..111596003-chr13:111601487..111604119,2	MCF-7	breast:
30	chr13:111601035..111603243-chr13:111609725..111611968,2	K562	blood:
31	chr13:111617540..111619381-chr13:111622818..111625539,2	K562	blood:
32	chr13:111595257..111596791-chr13:111692860..111695650,2	K562	blood:
33	chr13:111610789..111612726-chr13:111615344..111617491,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGEF7-5	chr13:111603260-111603531	l_920_chr13:111602257-111603531_testes
2	lnc-ANKRD10-1	chr13:111609527-111609598	NONHSAT035195
3	lnc-ANKRD10-1	chr13:111609527-111609598	XLOC_010724
4	lnc-ANKRD10-1	chr13:111623858-111623935	NONHSAT035195
5	lnc-ARHGEF7-6	chr13:111596587-111597078	l_919_chr13:111595710-111597078_testes
6	lnc-ARHGEF7-5	chr13:111603215-111603491	NONHSAT035192
7	lnc-ANKRD10-1	chr13:111612217-111612429	XLOC_010724
8	lnc-ANKRD10-1	chr13:111608813-111608988	XLOC_010724
9	lnc-ARHGEF7-5	chr13:111603001-111603173	l_920_chr13:111602257-111603531_testes
10	lnc-ANKRD10-1	chr13:111608858-111608988	NONHSAT035195
11	lnc-ARHGEF7-6	chr13:111595711-111595763	l_919_chr13:111595710-111597078_testes
12	lnc-ARHGEF7-5	chr13:111602258-111602398	l_920_chr13:111602257-111603531_testes
13	lnc-ARHGEF7-5	chr13:111602303-111602398	NONHSAT035193
14	lnc-ARHGEF7-5	chr13:111602300-111602398	NONHSAT035192
15	lnc-ARHGEF7-5	chr13:111603001-111603251	NONHSAT035193

No data

Variant related genes	Relation type
ENSG00000153487	chromatin interactions
ENSG00000088448	chromatin interactions
ENSG00000255874	chromatin interactions
ENSG00000225760	chromatin interactions
ENSG00000134905	chromatin interactions

Extended variants
information (count: 1408 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1408 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4771718	chr13:111595399-111595400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191020734	chr13:111595412-111595413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564618056	chr13:111595510-111595511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182688791	chr13:111595522-111595523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11620489	chr13:111595552-111595553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143322739	chr13:111595582-111595583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529440993	chr13:111595589-111595590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541368508	chr13:111595605-111595606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559606751	chr13:111595627-111595628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9522003	chr13:111595638-111595639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570249541	chr13:111595717-111595718	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs139475518	chr13:111595718-111595719	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141622609	chr13:111595719-111595720	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs77962655	chr13:111595752-111595753	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535598769	chr13:111595845-111595846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116730731	chr13:111595854-111595855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565977799	chr13:111595859-111595860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188201967	chr13:111595861-111595862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9583558	chr13:111595874-111595875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192737342	chr13:111595877-111595878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7318697	chr13:111595878-111595879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555788237	chr13:111595899-111595900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574191646	chr13:111595909-111595910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370538028	chr13:111595965-111595966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541607281	chr13:111595981-111595982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374814635	chr13:111595996-111595997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78570912	chr13:111596119-111596120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4238281	chr13:111596127-111596128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557885418	chr13:111596131-111596132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563762742	chr13:111596193-111596194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577990914	chr13:111596213-111596214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139514029	chr13:111596235-111596236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9522004	chr13:111596279-111596280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568139131	chr13:111596282-111596283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182942937	chr13:111596287-111596288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187534354	chr13:111596290-111596291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149730216	chr13:111596315-111596316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539766146	chr13:111596350-111596351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558035583	chr13:111596391-111596392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192392454	chr13:111596459-111596460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184869305	chr13:111596489-111596490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2005632	chr13:111596511-111596512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs2001187	chr13:111596527-111596528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534942920	chr13:111596568-111596569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553168424	chr13:111596582-111596583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573593460	chr13:111596587-111596588	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs113641136	chr13:111596594-111596595	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs2005633	chr13:111596595-111596596	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575997005	chr13:111596607-111596608	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543402630	chr13:111596611-111596612	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111591000-111596600	Weak transcription	Placenta	Placenta
2	chr13:111593600-111595600	Enhancers	K562	blood
3	chr13:111594200-111595400	Enhancers	NH-A	brain
4	chr13:111594600-111595800	Weak transcription	HMEC	breast
5	chr13:111594600-111596400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:111594600-111597000	Enhancers	NHEK	skin
7	chr13:111595000-111595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:111595200-111596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:111595200-111596200	Weak transcription	HSMMtube	muscle
10	chr13:111595200-111596600	Weak transcription	GM12878-XiMat	blood
11	chr13:111595400-111595800	Weak transcription	NH-A	brain
12	chr13:111595600-111596000	Weak transcription	K562	blood
13	chr13:111595600-111596800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:111595800-111596200	Enhancers	Left Ventricle	heart
15	chr13:111595800-111596600	Enhancers	HUVEC	blood vessel
16	chr13:111595800-111596600	Enhancers	NH-A	brain
17	chr13:111595800-111596800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:111595800-111597000	Enhancers	HMEC	breast
19	chr13:111595800-111597200	Enhancers	NHDF-Ad	bronchial
20	chr13:111595800-111597600	Enhancers	Hela-S3	cervix
21	chr13:111595800-111598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:111596000-111596400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:111596000-111597200	Enhancers	HSMM	muscle
24	chr13:111596000-111597400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:111596000-111597800	Enhancers	K562	blood
26	chr13:111596000-111598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:111596000-111598400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:111596200-111596600	Weak transcription	Left Ventricle	heart
29	chr13:111596200-111596600	Enhancers	HSMMtube	muscle
30	chr13:111596200-111596800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:111596200-111597000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:111596200-111597200	Enhancers	NHLF	lung
33	chr13:111596200-111597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:111596200-111597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:111596200-111597400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:111596200-111597600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr13:111596200-111597800	Enhancers	Fetal Muscle Leg	muscle
38	chr13:111596400-111596800	Enhancers	A549	lung
39	chr13:111596400-111597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:111596400-111597000	Enhancers	Osteobl	bone
41	chr13:111596400-111597400	Enhancers	Adipose Nuclei	Adipose
42	chr13:111596600-111597000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:111596600-111597000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:111596600-111597000	Enhancers	Placenta	Placenta
45	chr13:111596600-111597200	Enhancers	GM12878-XiMat	blood
46	chr13:111596600-111597200	Flanking Active TSS	HUVEC	blood vessel
47	chr13:111596600-111597400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:111596600-111597400	Weak transcription	HSMMtube	muscle
49	chr13:111596600-111597600	Enhancers	Lung	lung
50	chr13:111596600-111598000	Enhancers	Skeletal Muscle Female	skeletal muscle

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